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Uroporphyrinogen III synthase deficiency

MedGen UID:
404701
•Concept ID:
C2718078
•
Disease or Syndrome
Synonyms: Deficiency of Uroporphyrinogen III Synthase; Uroporphyrinogen III Synthase, Deficiency of; UROS Deficiency
SNOMED CT: Uroporphyrinogen III synthase deficiency (22935002)
 
OMIM®: 263700

Professional guidelines

PubMed

Very Early Diagnosis and Management of Congenital Erythropoietic Porphyria.
Desjardins MP, Naccache L, Hébert A, Auger I, Teira P, Pelland-Marcotte MC
Clin Pediatr (Phila) 2023 Jun;62(5):399-403. Epub 2022 Oct 11 doi: 10.1177/00099228221128661. PMID: 36217751Free PMC Article
Congenital erythropoietic porphyria: mutation update and correlations between genotype and phenotype.
Ged C, Moreau-Gaudry F, Richard E, Robert-Richard E, de Verneuil H
Cell Mol Biol (Noisy-le-grand) 2009 Feb 16;55(1):53-60. PMID: 19268002

Recent clinical studies

Diagnosis

Very Early Diagnosis and Management of Congenital Erythropoietic Porphyria.
Desjardins MP, Naccache L, Hébert A, Auger I, Teira P, Pelland-Marcotte MC
Clin Pediatr (Phila) 2023 Jun;62(5):399-403. Epub 2022 Oct 11 doi: 10.1177/00099228221128661. PMID: 36217751Free PMC Article

Therapy

Bone-marrow transplantation for congenital erythropoietic porphyria.
Kauffman L, Evans DI, Stevens RF, Weinkove C
Lancet 1991 Jun 22;337(8756):1510-1. doi: 10.1016/0140-6736(91)93198-i. PMID: 1675371

Prognosis

Congenital erythropoietic porphyria: mutation update and correlations between genotype and phenotype.
Ged C, Moreau-Gaudry F, Richard E, Robert-Richard E, de Verneuil H
Cell Mol Biol (Noisy-le-grand) 2009 Feb 16;55(1):53-60. PMID: 19268002
Bone-marrow transplantation for congenital erythropoietic porphyria.
Kauffman L, Evans DI, Stevens RF, Weinkove C
Lancet 1991 Jun 22;337(8756):1510-1. doi: 10.1016/0140-6736(91)93198-i. PMID: 1675371

Clinical prediction guides

Congenital erythropoietic porphyria: mutation update and correlations between genotype and phenotype.
Ged C, Moreau-Gaudry F, Richard E, Robert-Richard E, de Verneuil H
Cell Mol Biol (Noisy-le-grand) 2009 Feb 16;55(1):53-60. PMID: 19268002
Immunological, enzymatic and biochemical studies of uroporphyrinogen III-synthase deficiency in 20 patients with congenital erythropoietic porphyria.
Freesemann AG, Gross U, Bensidhoum M, de Verneuil H, Doss MO
Eur J Biochem 1998 Oct 1;257(1):149-53. doi: 10.1046/j.1432-1327.1998.2570149.x. PMID: 9799113

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